title: CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia.
abstract: To describe the genotype and phenotype in 14 unrelated Saudis with juvenile open angle glaucoma (JOAG). Detailed clinical examination was carried out and we sequenced cytochrome P450, family 1, subfamily B (CYP1B1), Myocilin (MYOC) and latent-transforming growth factor beta-binding protein 2 (LTBP2) genes. Twelve (85.7%) patients had apparent sporadic inheritance and 2 (14.3%) presented with a family history of glaucoma. Overall, 12 patients (85.7%) had CYP1B1 mutation. Nine patients had CYP1B1 mutations in a homozygous status. Eight of these had homozygous p.G61E mutation and one had a silent (no amino acid change) sequence change. Two patients had p.G61E mutation in a compound heterozygous status with another CYP1B1 mutation (p.L432V). Two patients had p.G61E in a heterozygous status with no other mutation, while one patient had no mutation(s). None of the patients had any mutation(s) in the MYOC or LTBP2 genes. JOAG associated with CYP1B1 mutations occurs at a high rate in the Saudi population. A specific genotype-phenotype relationship was not demonstrated.
authors.affiliation: Research Department, King Khaled Eye Specialist Hospital Riyadh , Saudi Arabia .
authors.forename: Khaled K
authors.initials: KK
authors.lastname: Abu-Amero
authors.forename: Jose
authors.initials: J
authors.lastname: Morales
authors.forename: Leyla A
authors.initials: LA
authors.lastname: Aljasim
authors.forename: Deepak P
authors.initials: DP
authors.lastname: Edward
mesh_terms: D000293:Adolescent; D000328:Adult; D018912:Arabs / Q000235:genetics; D002648:Child; D065633:Cytochrome P-450 CYP1B1 / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005902:Glaucoma, Open-Angle / Q000201:enzymology / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D007429:Intraocular Pressure; D053779:Latent TGF-beta Binding Proteins / Q000235:genetics; D008297:Male; D009154:Mutation; D012529:Saudi Arabia; D055815:Young Adult; D000099179:Myocilin
chemical_list: D065633:Cytochrome P-450 CYP1B1; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D053779:Latent TGF-beta Binding Proteins; D000099179:Myocilin; C509035:LTBP2 protein, human
keywords: CYP1B1; LTBP2; juvenile open angle glaucoma; myocilin; saudi arabia